Genetics of bronchopulmonary dysplasia in the age of genomics

Abstract

Purpose of review: According to recent evidence, susceptibility to bronchopulmonary dysplasia (BPD) in preterm infants is predominantly inherited. The purpose of this review is to discuss current published genetic association studies in light of the accumulated knowledge in genomics.

Recent findings: Major advances in the development of next-generation genotyping and sequencing platforms, statistical methodologies, inventories of functional outcome of some common genetic polymorphisms and large-scale cataloguing of genetic variability among many of the world's ethnic populations have greatly facilitated the study of polygenic conditions. For BPD, genetic-association studies have primarily focused on components of innate (e.g. first-line) immune and antioxidant defences, mechanisms of vascular and lung remodelling, and surfactant proteins. However, studies have been limited in sample size and therefore fraught with a high probability of false-positive and false-negative associations. Nonetheless, candidate gene associations have indicated some novel biological pathways and provide a conceptual framework for the design of larger, collaborative population-based studies.

Summary: Although studies to date have not been able to identify reproducible genetic risk markers for BPD, they have directed us towards new, promising research avenues.